Submissions for variant NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)

gnomAD frequency: 0.00019  dbSNP: rs144882998

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000224176	SCV000241391	benign	not provided	2020-01-27	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224176	SCV000281594	likely benign	not provided	2015-12-23	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001080049	SCV000645065	benign	Koolen-de Vries syndrome	2022-08-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001080049	SCV002807140	likely benign	Koolen-de Vries syndrome	2021-08-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224176	SCV004140750	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	KANSL1: BP4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224176	SCV001799305	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000224176	SCV001963382	likely benign	not provided		no assertion criteria provided	clinical testing